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Details for PCDH15:c.5601_5603delAAC,

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
55581882	53822122

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CGTT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.5601_5603delAAC

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.1097	0.0144	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.007204	0.08786	0.006013	0.001191	0.0001631	0.000693	0.0009148	0.004397	0.0004573

ESP
AA	EA
0.09456	0.004483

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.664726	Polymorphism

DBSNP ID

2 combinations linked to PCDH15:c.5601_5603delAAC,

1 disease linked to PCDH15:c.5601_5603delAAC,

Usher syndrome type 1

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